Lv1
40 积分 2022-03-03 加入
Expanding the spectrum of germline variants in cancer
5小时前
待确认
Mutations in the NSDHL gene, encoding a 3?-hydroxysteroid dehydrogenase, cause CHILD syndrome
2天前
已完结
Marked yield of re‐evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities
5天前
已完结
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders
5天前
已完结
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)
9天前
已完结
Genomic analysis of multiplex consanguineous families reveals causes of neurodevelopmental disorders with epilepsy
9天前
已完结
The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice
10天前
已完结
Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome
10天前
已完结
Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non‐syndromic inherited retinal dystrophies
14天前
已完结
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
14天前
已完结
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